@article {10755, title = {An evaluation of the Movement ABC-2 Test for use in Italy: A comparison of data from Italy and the UK.}, journal = {Res Dev Disabil}, volume = {84}, year = {2019}, month = {2019 Jan}, pages = {43-56}, abstract = {

BACKGROUND: The standardized test within the Movement Assessment Battery for Children-2nd edition (MABC-2) is used worldwide to assess motor problems in children. Ideally, any country using a test developed in another country should produce national norms to ensure that it functions effectively in the new context.

AIM: The first objective of this study was to explore the differences in motor performance between Italian and British children. The second was to examine the structural validity of the test for the Italian sample.

METHOD: A total of 718 Italian (IT) and 765 British (UK) children, aged 3-10 years, were individually tested on the age-appropriate items of the MABC-2 Test.

RESULTS: Developmental trends emerged on every task and differences between IT and UK children were obtained on 11 of 27 task comparisons. Interactions between age and country indicated that differences were not consistently in favor of one culture. Confirmatory factor analysis generally supported the proposed structure of the MABC-2 Test.

CONCLUSION: Although the differences between the IT and the UK children were relatively few, those that did emerge emphasize the need for population specific norms and suggest that cultural diversity in motor experiences should be considered when evaluating motor abilities in children.

}, issn = {1873-3379}, doi = {10.1016/j.ridd.2018.04.013}, author = {Zoia, Stefania and Biancotto, Marina and Guicciardi, Marco and Lecis, Romina and Lucidi, Fabio and Pelamatti, Giovanna M and Carrozzi, Marco and Skabar, Aldo and Sugden, David A and Barnett, Anna L and Henderson, Sheila E} } @article {10477, title = {Somatic symptom disorder was common in children and adolescents attending an emergency department complaining of pain.}, journal = {Acta Paediatr}, volume = {106}, year = {2017}, month = {2017 Apr}, pages = {586-593}, abstract = {

AIM: The aim of this study was to quantify the prevalence of somatic pain in a paediatric emergency department (ED).

METHODS: We conducted a prospective observational study using patients admitted to the ED of an Italian children{\textquoteright}s hospital between December 2014 and February 2015. We enrolled children aged 7-17 who turned up at the ED complaining of pain. Patients and parents were asked to fill in a questionnaire to allow the analysis of the patients{\textquoteright} medical history and provide contact details for follow-up. We divided the enrolled patients into four groups: post-traumatic pain, organic pain, functional pain and somatic pain. The questionnaire was used to define pain characteristics and to generate an impairment score.

RESULTS: Of the 713 patients who met inclusion criteria, 306 (42.9\%) were enrolled in the study. Of these, 135 (44.0\%) suffered from post-traumatic pain, 104 (34.0\%) from organic pain, 41 (13.4\%) from functional pain and 26 (8.6\%) from somatic pain. Somatic pain patients had endured pain longer, had missed more school days and had suffered severe functional impairment.

CONCLUSION: This study highlighted that somatic pain was a significant contributor to paediatric emergency room visits and should be suspected and diagnosed in children reporting pain.

}, keywords = {Adolescent, Child, Emergency Service, Hospital, Female, Humans, Italy, Male, Medically Unexplained Symptoms, Pain, Prospective Studies}, issn = {1651-2227}, doi = {10.1111/apa.13741}, author = {Cozzi, Giorgio and Minute, Marta and Skabar, Aldo and Pirrone, Angela and Jaber, Mohamad and Neri, Elena and Montico, Marcella and Ventura, Alessandro and Barbi, Egidio} } @article {1802, title = {Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.}, journal = {Gene}, volume = {492}, year = {2012}, month = {2012 Jan 15}, pages = {315-8}, abstract = {

Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Furthermore most cases with deletion in 2p11.2-p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions. Here, we describe a 9-year-old girl with a 9.4 Mb de novo interstitial deletion of region 2p11.2-p12 identified by SNP array analysis. The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsufficiency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities. A comparison of our case with previously reported patients who present deletions in 2p11.2-p12 was carried out. Our case adds new information to the deletion of 2p11.2-p12, improving the knowledge on this rearrangement.

}, keywords = {Abnormalities, Multiple, Child, Chromosomes, Human, Pair 2, Female, Humans, Intellectual Disability, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Sequence Deletion}, issn = {1879-0038}, doi = {10.1016/j.gene.2011.10.035}, author = {Rocca, Maria Santa and Fabretto, Antonella and Faletra, Flavio and Carlet, Ombretta and Skabar, Aldo and Gasparini, Paolo and Pecile, Vanna} } @article {1867, title = {De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.}, journal = {Am J Med Genet A}, volume = {158A}, year = {2012}, month = {2012 Apr}, pages = {882-7}, abstract = {

Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype-genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described.

}, keywords = {Abnormalities, Multiple, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 4, Developmental Disabilities, Female, Genotype, Humans, Language Development Disorders, Phenotype, Sequence Deletion}, issn = {1552-4833}, doi = {10.1002/ajmg.a.35239}, author = {Fabretto, Antonella and Santa Rocca, Maria and Perrone, Maria Dolores and Skabar, Aldo and Pecile, Vanna and Gasparini, Paolo} } @article {1728, title = {Neuromotor deficits in developmental coordination disorder: evidence from a reach-to-grasp task.}, journal = {Res Dev Disabil}, volume = {32}, year = {2011}, month = {2011 Jul-Aug}, pages = {1293-300}, abstract = {

Developmental coordination disorder (DCD) has been classified as a specific learning disability, nonetheless the underlying cognitive mechanisms are still a matter of discussion. After a summary of the main hypotheses on the principal neuromotor causes of DCD, this study applies a causal model framework to describe the possible coexistence of more than one deficit in this disorder. For this purpose, kinematic analysis was applied to an ecological task, the reach-to-grasp action, introducing the manipulation of three variables: vision, distance and object size. After a thorough neurological and neuropsychological evaluation, 9 children with DCD (7-9 years old) were selected and compared to 27 age-matched control children. The results suggest that children with DCD have a normal neurological characterization of the reaching and grasping movements, in terms of proximal to distal action, but their grasping aperture (MGA) was always wider with respect to controls, particularly when vision was not allowed. In addition, the performance of children with DCD was always slower, more dependent on vision and more variable than that of controls. The MGA of children with DCD could be explained by a deficit in the internal construction of movement for a forward model, while slowness could be related to a control problem in the neuronal firing of the muscles. The idea of a possible coexistence of these two deficits is discussed in accordance to a causal model framework and also addressed considering recent neurophysiologic evidences.

}, keywords = {Analysis of Variance, Biomechanical Phenomena, Child, Female, Humans, Male, Motor Skills Disorders, Psychometrics, Psychomotor Performance, Reaction Time, Space Perception}, issn = {1873-3379}, doi = {10.1016/j.ridd.2011.02.007}, author = {Biancotto, Marina and Skabar, Aldo and Bulgheroni, Maria and Carrozzi, Marco and Zoia, Stefania} }